Associated Papers
Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.
Mou JT et al.
Annals of Translational Medicine, 2022
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C et al.
Nature Genetics, 2012
22772371 (PubMed )
Supplement: NIHMS386390-supplement-1.pdf
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
Jeanne M et al.
American Journal of Human Genetics, 2012
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
Karolak JA et al.
Molecular Vision, 2011
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